Family | Nucleotide change | Amino acid change/predicted effect | Ages of end stage renal disease in the family in years, M-male, F-female |
---|---|---|---|
429 | c.4551_4581del31 | p.Tyr1517X | M 39, M 26 |
236 | c.5650G > T | p.Glu1884X | M 52 |
478 | c.5824_5825dupC | p.Arg1942ProfsX47 | M 40 |
301 | c.5995G > A | p.Gly1999Ser | M 54 |
237 | c.6960_6961insG | p.Ser2321GlufsX98 | M 48, F 45 |
253 | c.7000_7001dupGCTGGCG | p.Val2334GlyfsX87 | M 61, M 60, M 36 |
403 | c.7758_7761del4 | p.Trp2587CysfsX31 | F 60 |
357 | c.7856 T > G | p.Leu2619Arg | M 41, F 57 |
482 | c.8792-2A > T | Probable splice defect | M 43 |
479 | c.9416_9417dupACGTGGG | p.Ile3140ArgfsX40 | F 79, M 55, M 51 |
430 | c.9584G > A | p.Trp3195X | M 57 |
391 | c.9904G > C9906_9907delTG | p.Val3302LeufsX86 | M 61 |
413 | c.10821 + 4_10821 + 6delAGG | Probable splice defect | F43, F 49 |
330 | c.10951G > A | p.Gly3651Ser | F73, F71, M 73 |
297 | c.10980_10982delAGC | p.Glu3660_Ala3661delinsAsp | M 41, F 44, F 35 |
385 | c.11172G > A | p.Trp3724X | F 49 |
419 | c.11248C > G | p.Arg3750Gly | F 44 |
420 | c.11884 C > T | p.Gln3962X | F 45, F 46 |
425 | c.12004-15_12015del27 | Probable splice defect | F 65, F 51 |
215 | c.12061 C > T | p.Arg4021X | F 58, M 50, M 50 |
454 | c.12439_12441delAAG | p.Lys4147del | M 67 |